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Deafness-small bowel diverticulosis-neuropathy syndrome

Disease definition

A rare neurologic disease characterized by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities, including progressive loss of gastric motility and small bowel diverticulosis and ulcerations, resulting in cachexia. Additonal neurological manifestations may include dysarthria and absent tendon reflexes, as well as ptosis and external ophthalmoplegia. There have been no further descriptions in the literature since 1985.

ORPHA:3217

Classification level: Disorder
  • Synonym(s):
    • Groll-Hirschowitz syndrome
    • Hearing loss-small bowel diverticulosis-neuropathy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Childhood
  • ICD-10: G60.8
  • OMIM: 221400
  • UMLS: C1857338
  • MeSH: -
  • GARD: 2568
  • MedDRA: -
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